Science and society: Advocacy groups as research organizations: the PXE International example

Advocacy organizations for genetic diseases are increasingly becoming involved in biomedical research, particularly translational research, in order to meet the needs of the individuals that they serve. PXE International, an advocacy organization for the disease pseudoxanthoma elasticum, provides an example of how research can be accelerated by these groups. It has adopted methods that were pioneered by other advocacy organizations, and has integrated these along with new approaches into franchizable elements. The model has been followed for other conditions and has led to the establishment of a common infrastructure to enable advocacy groups to initiate, conduct and accelerate research.

[1]  Hilla Peretz,et al.  Ju n 20 03 Schrödinger ’ s Cat : The rules of engagement , 2003 .

[2]  L. Tsui,et al.  Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. , 1989, Science.

[3]  M. Peruffo,et al.  Yellowish Papules on Flexural Areas of a Child , 2002, Pediatric dermatology.

[4]  M. Zitter.  Managing drugs for rare genetic diseases: trends and insights. , 2005, Managed care.

[5]  S. Steinberg,et al.  Genetic counseling and testing in families with hereditary nonpolyposis colorectal cancer. , 2003, Archives of internal medicine.

[6]  Karen Marder,et al.  Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. , 2004, Proceedings of the National Academy of Sciences of the United States of America.

[7]  Sharon F Terry,et al.  Learning genetics. , 2003, Health affairs.

[8]  M. Lebwohl,et al.  International Centennial Meeting on Pseudoxanthoma Elasticum: progress in PXE research. , 1998, The Journal of investigative dermatology.

[9]  J. Kerner.  Knowledge translation versus knowledge integration: A “funder's” perspective , 2006, The Journal of continuing education in the health professions.

[10]  E. Marshall.  Patient Advocate Named Co-Inventor On Patent for the PXE Disease Gene , 2004, Science.

[11]  F. Collins,et al.  A vision for the future of genomics research , 2003, Nature.

[12]  Jeremy Sugarman,et al.  Ethical issues in identifying and recruiting participants for familial genetic research , 2004, American journal of medical genetics. Part A.

[13]  L. J. Hardies,et al.  Growth hormone benefits children with 18q deletions , 2005, American journal of medical genetics. Part A.

[14]  Empowering the Public to Be Informed Consumers of Genetic Technologies and Services , 2001, Public Health Genomics.

[15]  Pablo Rodriguez-Viciana,et al.  Germline Mutations in Genes Within the MAPK Pathway Cause Cardio-facio-cutaneous Syndrome , 2006, Science.

[16]  S. Terry,et al.  Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa , 2002, Human Genetics.

[17]  M. Cho,et al.  Protecting subjects' interests in genetics research. , 2002, American journal of human genetics.

[18]  D. Shickle.  The consent problem within DNA biobanks. , 2006, Studies in history and philosophy of biological and biomedical sciences.

[19]  R. Dresser.  Public advocacy and allocation of federal funds for biomedical research. , 1999, The Milbank quarterly.

[20]  Stylianos E. Antonarakis,et al.  Mendelian disorders deserve more attention , 2006, Nature Reviews Genetics.

[21]  T. D. Wilson,et al.  Editorial , 1997, Brain Research Bulletin.

[22]  Stephen B. Johnson,et al.  Central challenges facing the national clinical research enterprise. , 2003, JAMA.

[23]  M. Lebwohl,et al.  Mammographic findings in pseudoxanthoma elasticum. , 2003, Journal of the American Academy of Dermatology.

[24]  Lionel Bercovitch,et al.  Pseudoxanthoma elasticum 2004. , 2004, Journal of the American Academy of Dermatology.

[25]  J. Schensul.  Organizing Community Research Partnerships in the Struggle against AIDS , 1999, Health education & behavior : the official publication of the Society for Public Health Education.

[26]  D. Socolar,et al.  No Exit and the Organization of Voice in Biotechnology and Pharmaceuticals , 2003, Journal of health politics, policy and law.

[27]  M. Davisson,et al.  The bst locus on mouse chromosome 16 is associated with age-related subretinal neovascularization. , 2000, Proceedings of the National Academy of Sciences of the United States of America.

[28]  J. Haines,et al.  A genetic linkage map of the chromosome 4 short arm , 1993, Somatic cell and molecular genetics.

[29]  S. Groft.  Fostering research partnerships: a perspective from The Office of Rare Diseases (ORD). , 2005, Retina.

[30]  Clayton M. Christensen,et al.  Disruptive innovation: a new diagnosis for health care's "financial flu". , 2002, Healthcare financial management : journal of the Healthcare Financial Management Association.

[31]  A. Young,et al.  A polymorphic DNA marker genetically linked to Huntington's disease , 1983, Nature.

[32]  S. Terry,et al.  Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum , 2000, Nature Genetics.

[33]  Laura Scott,et al.  Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome , 2003, Nature.

[34]  J. Kaiser.  Court Decides Tissue Samples Belong to University, Not Patients , 2006, Science.

[35]  J. Weiss,et al.  The role of genetic support groups. , 1994, Journal of Obstetric, Gynecologic and Neonatal Nursing.

[36]  M Gwinn,et al.  Informed consent for population-based research involving genetics. , 2001, JAMA.

[37]  M. Kool,et al.  Mutations in ABCC6 cause pseudoxanthoma elasticum , 2000, Nature Genetics.

[38]  S. Terry,et al.  Extracutaneous Ultrastructural Alterations in Pseudoxanthoma Elasticum , 2003, Ultrastructural pathology.

[39]  S. Terry,et al.  The placenta in pseudoxanthoma elasticum: clinical, structural and immunochemical study. , 2001, Placenta.

[40]  S. Terry,et al.  A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. , 2001, American journal of human genetics.